TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Dystonia, Primary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0752203
Disease:
Dystonia, Primary 		0.010 GeneticVariation BEFREE The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia. 24598712 2014